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APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1)

Identity

Alias_namesadaptor protein
Alias_symbol (synonym)APPL
Other aliasDIP13alpha
MODY14
HGNC (Hugo) APPL1
LocusID (NCBI) 26060
Atlas_Id 680
Location 3p14.3  [Link to chromosome band 3p14]
Location_base_pair Starts at 57261765 and ends at 57307498 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APPL1 (3p14.3) / NBEAL1 (2q33.2)APPL1 (3p14.3) / SPATA12 (3p14.3)ATXN10 (22q13.31) / APPL1 (3p14.3)
NEK1 (4q33) / APPL1 (3p14.3)PDP1 (8q22.1) / APPL1 (3p14.3)APPL1 3p14.3 / SPATA12 3p14.3
ATXN10 22q13.31 / APPL1 3p14.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)APPL1   24035
Cards
Entrez_Gene (NCBI)APPL1  26060  adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
AliasesAPPL; DIP13alpha; MODY14
GeneCards (Weizmann)APPL1
Ensembl hg19 (Hinxton)ENSG00000157500 [Gene_View]  chr3:57261765-57307498 [Contig_View]  APPL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000157500 [Gene_View]  chr3:57261765-57307498 [Contig_View]  APPL1 [Vega]
ICGC DataPortalENSG00000157500
TCGA cBioPortalAPPL1
AceView (NCBI)APPL1
Genatlas (Paris)APPL1
WikiGenes26060
SOURCE (Princeton)APPL1
Genetics Home Reference (NIH)APPL1
Genomic and cartography
GoldenPath hg19 (UCSC)APPL1  -     chr3:57261765-57307498 +  3p14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APPL1  -     3p14.3   [Description]    (hg38-Dec_2013)
EnsemblAPPL1 - 3p14.3 [CytoView hg19]  APPL1 - 3p14.3 [CytoView hg38]
Mapping of homologs : NCBIAPPL1 [Mapview hg19]  APPL1 [Mapview hg38]
OMIM604299   616511   
Gene and transcription
Genbank (Entrez)AB037849 AF169797 AF424738 AK299008 AK310716
RefSeq transcript (Entrez)NM_012096
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)APPL1
Cluster EST : UnigeneHs.476415 [ NCBI ]
CGAP (NCI)Hs.476415
Alternative Splicing GalleryENSG00000157500
Gene ExpressionAPPL1 [ NCBI-GEO ]   APPL1 [ EBI - ARRAY_EXPRESS ]   APPL1 [ SEEK ]   APPL1 [ MEM ]
Gene Expression Viewer (FireBrowse)APPL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26060
GTEX Portal (Tissue expression)APPL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKG1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKG1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKG1
Splice isoforms : SwissVarQ9UKG1
PhosPhoSitePlusQ9UKG1
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    PID (PS01179)   
Domains : Interpro (EBI)AH/BAR-dom    PH_dom-like    PH_domain    PTB/PI_dom   
Domain families : Pfam (Sanger)PH (PF00169)    PID (PF00640)   
Domain families : Pfam (NCBI)pfam00169    pfam00640   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)APPL1
DMDM Disease mutations26060
Blocks (Seattle)APPL1
PDB (SRS)2EJ8    2ELA    2ELB    2Q12    2Q13    2Z0N    2Z0O   
PDB (PDBSum)2EJ8    2ELA    2ELB    2Q12    2Q13    2Z0N    2Z0O   
PDB (IMB)2EJ8    2ELA    2ELB    2Q12    2Q13    2Z0N    2Z0O   
PDB (RSDB)2EJ8    2ELA    2ELB    2Q12    2Q13    2Z0N    2Z0O   
Structural Biology KnowledgeBase2EJ8    2ELA    2ELB    2Q12    2Q13    2Z0N    2Z0O   
SCOP (Structural Classification of Proteins)2EJ8    2ELA    2ELB    2Q12    2Q13    2Z0N    2Z0O   
CATH (Classification of proteins structures)2EJ8    2ELA    2ELB    2Q12    2Q13    2Z0N    2Z0O   
SuperfamilyQ9UKG1
Human Protein AtlasENSG00000157500
Peptide AtlasQ9UKG1
HPRD05053
IPIIPI00015836   IPI00794130   IPI00945171   IPI01012438   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKG1
IntAct (EBI)Q9UKG1
FunCoupENSG00000157500
BioGRIDAPPL1
STRING (EMBL)APPL1
ZODIACAPPL1
Ontologies - Pathways
QuickGOQ9UKG1
Ontology : AmiGOprotein binding  nucleus  cytoplasm  cytosol  cell cycle  signal transduction  cell proliferation  insulin receptor signaling pathway  insulin receptor signaling pathway  endosome membrane  endosome membrane  vesicle membrane  NuRD complex  early endosome membrane  identical protein binding  protein kinase B binding  regulation of glucose import  extracellular exosome  regulation of establishment of protein localization to plasma membrane  extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  cytosol  cell cycle  signal transduction  cell proliferation  insulin receptor signaling pathway  insulin receptor signaling pathway  endosome membrane  endosome membrane  vesicle membrane  NuRD complex  early endosome membrane  identical protein binding  protein kinase B binding  regulation of glucose import  extracellular exosome  regulation of establishment of protein localization to plasma membrane  extrinsic apoptotic signaling pathway in absence of ligand  
Pathways : KEGGPathways in cancer    Colorectal cancer   
NDEx NetworkAPPL1
Atlas of Cancer Signalling NetworkAPPL1
Wikipedia pathwaysAPPL1
Orthology - Evolution
OrthoDB26060
GeneTree (enSembl)ENSG00000157500
Phylogenetic Trees/Animal Genes : TreeFamAPPL1
HOVERGENQ9UKG1
HOGENOMQ9UKG1
Homologs : HomoloGeneAPPL1
Homology/Alignments : Family Browser (UCSC)APPL1
Gene fusions - Rearrangements
Fusion : MitelmanAPPL1/SPATA12 [3p14.3/3p14.3]  
Fusion : MitelmanATXN10/APPL1 [22q13.31/3p14.3]  [t(3;22)(p14;q13)]  
Fusion: TCGAAPPL1 3p14.3 SPATA12 3p14.3 BRCA
Fusion: TCGAATXN10 22q13.31 APPL1 3p14.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPPL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APPL1
dbVarAPPL1
ClinVarAPPL1
1000_GenomesAPPL1 
Exome Variant ServerAPPL1
ExAC (Exome Aggregation Consortium)APPL1 (select the gene name)
Genetic variants : HAPMAP26060
Genomic Variants (DGV)APPL1 [DGVbeta]
DECIPHER (Syndromes)3:57261765-57307498  ENSG00000157500
CONAN: Copy Number AnalysisAPPL1 
Mutations
ICGC Data PortalAPPL1 
TCGA Data PortalAPPL1 
Broad Tumor PortalAPPL1
OASIS PortalAPPL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPPL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPPL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch APPL1
DgiDB (Drug Gene Interaction Database)APPL1
DoCM (Curated mutations)APPL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APPL1 (select a term)
intoGenAPPL1
Cancer3DAPPL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604299    616511   
Orphanet8028   
MedgenAPPL1
Genetic Testing Registry APPL1
NextProtQ9UKG1 [Medical]
TSGene26060
GENETestsAPPL1
Huge Navigator APPL1 [HugePedia]
snp3D : Map Gene to Disease26060
BioCentury BCIQAPPL1
ClinGenAPPL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26060
Chemical/Pharm GKB GenePA162376755
Clinical trialAPPL1
Miscellaneous
canSAR (ICR)APPL1 (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPPL1
EVEXAPPL1
GoPubMedAPPL1
iHOPAPPL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:44 CEST 2017

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